Ferdos Nazari1, Farnaz Sinaei1, Yalda Nilipour2, Farzad Fatehi1, Berthold Streubel3, Mahmoud Reza Ashrafi4, Omid Aryani5, Shahriar Nafissi1. 1. Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114, Iran. 2. Pediatric Pathology Research Center, Mofid Children Hospital, Shahid Beheshti Medical University, Tehran, Iran. 3. Department of Obstetrics and Feto-Maternal Medicine, Medical University of Vienna, Vienna, Austria. 4. Children's Medical Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. 5. Genetics Department, Special Medical Center, Tehran, Iran.
Abstract
INTRODUCTION: Pompe disease is characterized by absence or deficiency of acid α-glucosidase, and several causative mutations are known. In this study we report clinical and laboratory data in Iranian patients with late-onset Pompe disease (LOPD), focusing on population-specific mutations. METHODS: Clinical and laboratory data of 14 patients from 10 families with the diagnosis of LOPD were recorded. All had reduced enzyme activity on dried blood spot (DBS) analysis. Genetic investigation was performed to identify the underlying mutations. RESULTS: The age of onset ranged from <2 to 38 years. The clinical presentations were heterogeneous. Two siblings presented with foot drop. The most common mutation was c.(-32-13T>G). There were 4 novel mutations: c.(2040 + 2dup); c.(1650delG); c.(1837T>G); and c.(2596delG). CONCLUSION: This is a comprehensive report of LOPD in Iranian patients. Distinct phenotypic and genotypic features in this population are highlighted. Muscle Nerve 55: 835-840, 2017.
INTRODUCTION:Pompe disease is characterized by absence or deficiency of acid α-glucosidase, and several causative mutations are known. In this study we report clinical and laboratory data in Iranian patients with late-onset Pompe disease (LOPD), focusing on population-specific mutations. METHODS: Clinical and laboratory data of 14 patients from 10 families with the diagnosis of LOPD were recorded. All had reduced enzyme activity on dried blood spot (DBS) analysis. Genetic investigation was performed to identify the underlying mutations. RESULTS: The age of onset ranged from <2 to 38 years. The clinical presentations were heterogeneous. Two siblings presented with foot drop. The most common mutation was c.(-32-13T>G). There were 4 novel mutations: c.(2040 + 2dup); c.(1650delG); c.(1837T>G); and c.(2596delG). CONCLUSION: This is a comprehensive report of LOPD in Iranian patients. Distinct phenotypic and genotypic features in this population are highlighted. Muscle Nerve 55: 835-840, 2017.
Authors: Hao Tang; Lisa Feuchtbaum; Stanley Sciortino; Jamie Matteson; Deepika Mathur; Tracey Bishop; Richard S Olney Journal: Int J Neonatal Screen Date: 2020-02-07
Authors: P Vanherpe; S Fieuws; A D'Hondt; C Bleyenheuft; P Demaerel; J De Bleecker; P Van den Bergh; J Baets; G Remiche; K Verhoeven; S Delstanche; M Toussaint; B Buyse; P Van Damme; C E Depuydt; K G Claeys Journal: Orphanet J Rare Dis Date: 2020-04-05 Impact factor: 4.123